Materias dentro de su búsqueda.
Mostrando 197,421 - 197,440 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 1.31s Limitar resultados
  1. 197421
    por Chouieri, Toni
    Publicado 2023
    “…Savolitinib is an oral, potent and highly selective MET tyrosine-kinase inhibitor (TKI) demonstrating preliminary clinical activity in advanced solid tumors, including in MET-driven PRCC, defined as presence of any of the following molecular alterations, in the absence of co-occurring fumarate hydratase mutations: chromosome 7 gain, MET amplification, MET kinase domain variations, or hepatocyte growth factor amplification. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SAMETA: A Phase III study of savolitinib + durvalumab vs sunitinib and durvalumab monotherapy in patients with MET-driven, unresectable, locally advanced/metastatic papillary renal cell carcinoma
  2. 197422
    “…The experiments also showed that mutations of − 328 to − 336 and − 378 to − 386 GAS elements markedly reduced FOSL1 promoter activity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    TRPM7 transactivates the FOSL1 gene through STAT3 and enhances glioma stemness
  3. 197423
    “…ABSTRACT: Embryonic tumors share few recurrent mutations, suggesting that other mechanisms, such as aberrant DNA methylation, play a prominent role in their development. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis
  4. 197424
    “…Two of them are in the 5’UTR region and the other two are in the coding region, and the variants in the coding region are all non-synonymous mutations. In addition, there was a 6 bp length variation in allele C. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
  5. 197425
    “…CB-103 was dosed orally in cycles of 28 days at escalating doses until disease progression. Notch-activating mutations were required in a dose confirmatory cohort. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Phase I Study of the Pan-Notch Inhibitor CB-103 for Patients with Advanced Adenoid Cystic Carcinoma and Other Tumors
  6. 197426
    “…Recurrence rates may differ in Asians. The impact of mutational status and modern treatment including targeted therapies and immune checkpoint inhibitors is inadequately studied.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Meta-Analysis of Rates and Risk Factors for Local Recurrence in Surgically Resected Patients With NSCLC and Differences Between Asian and Non-Asian Populations
  7. 197427
    “…Analysis of molecular alterations in Afirma suspicious nodules from ITN and Bethesda V-VI nodules showed that isthmus nodules had twice the frequency of BRAFV600E mutations compared to lobar nodules (21% vs 10%), an increased frequency of ALK/NTRK/RET fusions (4.6% vs 2.5%), and a lower frequency of NRAS (7.7% vs 13%) and HRAS (4.5% vs 8.2%) variants (all comparisons significant (p < 0.001)). …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU680 Cytologic And Molecular Assessment Of Isthmus Thyroid Nodules
  8. 197428
    “…Next-Generation Sequencing (NGS) of the tumor showed a high tumor mutational burden as well as high microsatellite instability being beneficial Pembrolizumab for treatment if required. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU516 An Unusual Neck Mass
  9. 197429
    “…Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare, genetic disorder caused by heterozygous inactivating mutations involving the maternal GNAS allele, the gene that encodes the stimulatory G protein (Gsα). …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI596 Randomized Clinical Trial Of Theophylline For Treatment Of Pseudohypoparathyroidism Type 1a
  10. 197430
    “…Pancreatic ductal adenocarcinoma (PDAC) commonly harbors mutations in KRAS and TP53 genes and its overall 5-year survival rate is only 10% in the US. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU507 Tumor Activin A Mediates Cachexia Primarily Through White Adipose Tissue Hydrolysis In Pancreatic Ductal Adenocarcinoma
  11. 197431
    “…Background: MEN1 is a rare, autosomal dominant tumor disorder due to mutations in the MEN1 tumor suppressor gene. It is characterized by parathyroid, enteropancreatic and pituitary tumors. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU094 Multiple Endocrine Neoplasia Type 1 Tumor Recurrence After Loss To Follow Up
  12. 197432
    “…This disease causes mutations in parathyroid cells causing parathyroid-gland hyperplasia. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SAT212 Collateral Damage A Case Of Refractory Hyperparathyroidism In A Young Woman With End Stage Renal Disease
  13. 197433
    “…Lymphangioleiomyomatosis (LAM) is a rare, progressive, destructive cystic lung disease affecting almost exclusively female-sexed individuals. Mutations in the tuberous sclerosis (TSC1 or TSC2) genes constitutively activate the mTORC1 pathway, promoting hyperproliferation of smooth muscle cells, creating small tumors throughout the lungs. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU551 Glycoprotein-NMB (GPNMB) Is A Potential Lymphangioleiomyomatosis (LAM) Therapeutic Target And Biomarker
  14. 197434
    “…These findings point to the possibility that mutations altering regional contacts within the Tg structure could contribute to the molecular pathogenesis of congenital hypothyroidism. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    OR14-01 Contact Between Thyroglobulin Opposite Domains Assists Its Upstream Regions In Intracellular Trafficking For Thyroid Hormonogenesis
  15. 197435
    por Chin, Yun Ann, Puar, Troy, King, Thomas
    Publicado 2023
    “…DNA sequencing of CYP21 revealed compound heterozygous mutations in c.292+1G>A and c.518T>A, both of which have been reported to be causative of CAH. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI245 Non-classic CAH Presenting As Bilateral Adrenal Incidentalomas
  16. 197436
    “…Introduction: McCune-Albright Syndrome (MAS) is a rare mosaic disorder with GNAS mutations, encoding the alpha-subunit of the Gs G-coupled protein receptor, activating it, and inappropriately producing cAMP. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU452 Polyostotic Fibrous Dysplasia Complicated By Aneurysmal Bone Cyst In A Patient With McCune-Albright Syndrome
  17. 197437
    “…It is characterized by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, leading to impaired bone mineralization. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    THU458 Demineralization Zebras: A Rare Case Of Hypophosphatasia In An Adult Presenting With Osteopenia
  18. 197438
    “…Na-K ATPase activity is directly stimulated by thyroid hormone and insulin response to carbohydrate ingestion which promotes potassium uptake into muscle correlating with clinical observation that paralysis seen after a high carbohydrate meal. KCNJ18 gene mutations which alter the function of an inwardly rectifying potassium channel named Kir2.6 have been detected in some patients. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI550 Case Of Thyrotoxic Periodic Paralysis In African American Man With Cannabis Use
  19. 197439
    “…The molecular mechanisms are unclear, with germline CDC73 mutations appearing to be the most common defect. Due to uncertain malignant potential, a close and careful monitoring is recommended for these patients. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    SAT188 Atypical Parathyroid Adenoma: A Diagnostic Challenge Of Primary Hyperparathyroidism
  20. 197440
    “…Background: Non-classic congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disorder resulting from loss of function mutations of the 21-hydroxylase gene. It is characterized by mild cortisol deficiency, excess ACTH production, and androgen excess, often with various features of dysmetabolic syndrome. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    FRI247 Case Of Metabolic Resolution Of Non-classic Congenital Adrenal Hyperplasia Post Roux-En-Y Gastric Bypass
Herramientas de búsqueda: RSS